Author
Hospital for Sick ChildrenORCID 0000-0002-5109-3484Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
David Cheerie, Amy Y. Pan, Meryl Acker…·Gregory Costain
The paper describes a structured initiative to assess patient eligibility for genetic medicines, showing high uptake and feasibility of a multidisciplinary approach.
David Cheerie, Marlen C. Lauffer, Logan Newton…·Evgueni A. Ivakine
The paper estimates the proportion of genetic diagnoses in a pediatric cohort that are amenable to antisense oligonucleotide therapy, finding 4.9% eligible or likely eligible.
Emanuela Argilli, Caleb Yang, Carolyn Le…·Elliott H. Sherr
The paper identifies ABI2 missense variants linked to neurodevelopmental disorders with intellectual disability, epilepsy, and brain malformations through exome sequencing.